| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129342379C>T | CA236268 | LAMA2 | c.4348C>T (p.Arg1450Ter) c.4612C>T (p.Arg1538Ter) c.4618C>T (p.Arg1540Ter) c.2743C>T (p.Arg915Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129342379C= | CA1663123261 | LAMA2 | c.4348C= (p.Arg1450=) c.4612C= (p.Arg1538=) c.4618C= (p.Arg1540=) c.2743C= (p.Arg915=) | dbSNP |
| 6 | g.129342379C>A | CA451925462 | LAMA2 | c.4348C>A (p.Arg1450=) c.4612C>A (p.Arg1538=) c.4618C>A (p.Arg1540=) c.2743C>A (p.Arg915=) | dbSNP gnomAD v4 |